Personalized and Precision Medicine Journal
Where Innovations Meets Personalized and Precision Medicine

Introduction of Spinal Muscular Atrophy Disease and the Latest Treatment Approaches Based on Gene Therapy

Document Type : Review Article

Authors

Raziyeh Gorji 1
Shinoo Minaei 2
Saeed Homaei 2
Mitra Rashidi 3

1 Department of Molecular Genetics, Faculty of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, ACECR, Tehran, Iran.

2 Department of Biology, Faculty of Biological Sciences, East-Tehran Branch, Islamic Azad University, Tehran, Iran.

3 Department of Microbiology, Faculty of Biological Sciences, East-Tehran Branch, Islamic Azad University, Tehran, Iran.

https://doi.org/10.22034/pmj.2024.713767
Abstract
Spinal muscular atrophy (SMA) is a prevalent autosomal recessive disorder characterized by gradual weakening of the skeletal and respiratory muscles, resulting in substantial impairment. The illness is a result of genetic abnormalities in the survival motor neuron 1 (SMN1) gene, which leads to a reduction in the SMN protein and subsequently causes the degeneration of lower motor neurons. Gene therapy is a method that has the potential to cure or prevent uncommon monogenic illnesses by substituting a defective gene with a functional one. Gene therapy is particularly suitable for monogenic illnesses since it has the ability to correct abnormalities in a single gene. Currently, Nusinersen, risdiplam, and onasemnogene abeparvovec are the only officially sanctioned treatments for SMA that have the ability to influence the course of the illness. The purpose of this analysis is to examine and analyze their mechanisms of action, impacts, and potential safety issues. Nusinersen and risdiplam function by altering the SMN2 gene product, whereas onasemnogene abeparvovec operates by introducing copies of the SMN1 gene into cells. In this article, we briefly describe the pathogenesis and treatment strate, gies of SMA.

Keywords

Spinal muscular atrophy
Gene therapy
Nusinersen
Zolgensma
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Personalized and Precision Medicine Journal
Volume 9, Issue 33 - Serial Number 33
Original article
Spring 2024
Pages 37-46

  • Receive Date 13 February 2024
  • Revise Date 15 April 2024
  • Accept Date 26 May 2024

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